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. 2019 Dec 19;138(2):174–181. doi: 10.1001/jamaophthalmol.2019.5293

Table 3. Replication and Analysis of Association Results at Lead SNPs.

Locusa Chr Lead SNPb Base Pairc Allele 1/2 Discovery Cohort Replication Cohorts Discovery and Replication Analysis
United States Australia and Northern Ireland Victoria, Australia
Odds Ratio (95% CI) P Value Odds Ratio (95% CI) P Value Odds Ratio (95% CI) P Value Odds Ratio (95% CI) P Value P Value Direction
PNPLA2 11 rs61876744 820754 T/C 0.59 (0.49-0.71) 7.46 × 10−9 0.77 (0.63-0.95) 8.88 × 10−4 0.84 (0.65-1.08) .18 0.97 (0.79-1.19) .76 2.45 × 10−8 −, −, −, −
MAML2 11 rs10831500 95982642 G/T 1.59 (1.33-1.91) 3.91 × 10−7 1.35 (1.11-1.65) 5.69 × 10−3 1.09 (0.85-1.40) .52 1.03 (0.84-1.26) .79 3.83 × 10−6 +, +, +, +
CSNK1E 22 rs138378 38796159 A/G 0.50 (0.41-0.61) 1.77 × 10−11 0.95 (0.78-1.16) .79 0.97 (0.76-1.24) .82 0.93 (0.76-1.13) .45 3.18 × 10−4 −, −, −, −

Abbreviations: Chr, chromosome; CSNK1E, casein kinase I isoform epsilon; MAML2, mastermind-like transcriptional coactivator 2; PNPLA2, patatin-like phospholipase domain containing 2; SNP, single-nucleotide polymorphism.

a

Locus assigned to the RefSeq protein-coding gene within or near the association signal interval.

b

The lead SNP at CSNK1E (rs138380) was not successfully genotyped in the Australia and Northern Ireland and Victoria, Australia, cohorts, and a proxy (rs138378, R2 = 0.938) was used for replication instead.

c

Genomic positions are based on hg19.